Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes

被引：26

作者：

George, Aman ^{[1
]}

Cogliati, Tiziana ^{[1
]}

Brooks, Brian P. ^{[1
]}

机构：

[1] NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA

来源：

EXPERIMENTAL EYE RESEARCH | 2020年 / 193卷

关键词：

SOX2 ANOPHTHALMIA SYNDROME; ABSENT CORPUS-CALLOSUM; MECKEL-GRUBER-SYNDROME; OPTIC FISSURE CLOSURE; JOUBERT SYNDROME; MUTATIONS CAUSE; PHENOTYPIC SPECTRUM; CHD7; MUTATION; HYPOGONADOTROPIC HYPOGONADISM; DEVELOPMENTAL ANOMALIES;

D O I：

10.1016/j.exer.2020.107940

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Qligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.

引用

页数：14

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